ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345914
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844119
ClinVar RCV Id:
RCV001046889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ser358Pro
CA409651145
NM_172107.3:c.1072T>C